Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69


rs12131800 in CACNA1E gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID 30343943 2018 De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.